Scientists have revealed 7,495 specific genetic markers for diseases and other traits tucked into my DNA. But what does it mean to have so much self-knowledge?
I’ve been asking this question since I was first sequenced in 2001, and since I wrote the book Experimental Man almost a year ago.
The variations in my nucleotides suggest that I’m either at high risk, or not, for traits ranging from heart disease and creativity to heroin addiction and narcolepsy. I’m also a poor metabolizer of the blood thinner warfarin, have a slightly higher IQ, and have both a higher and lower risk of going bald.
Most of these markers – which detect differences in my DNA from other’s DNA that suggest higher or lower risk of disease – remain preliminary and need to be further researched to validate whether or not they are real for an individual like me or you.
Finding meaning in all of this data will be a major theme of this blog in 2010: to cover the growing field of DNA analysis and interpretation as genetic sequencing companies continue to act on a Moore’s Law curve on steroids to bring costs down and to speed up the time it takes to spew out a person’s genetic data.
The need to speed up and lower the costs of interpreting all of the As, Ts, Cs, and Ts being churned out should be as much a priority as producing the raw data–even if it is less sexy than the cool machines being made by the likes of Complete Genomics and Pacific Biosciences. In 2010, we’ll see hundreds, possibly thousands of complete human genomes sequenced.
Check out all of my 7,495 markers at the website SNPedia–not because they’re mine, but because you will one day have all of this data at your fingertips, too. SNPedia has a program called Promethease (this is spelled correctly) that automatically keeps up with the latest studies that link genetic variations with diseases and other traits. Just six months ago, I had a mere 5094 traits annotated by the program–that’s 2400 new traits since late June, 2009.
Geneticists tell me that about 50 to 100 of the genetic traits on my list of 7,495 have been tested and found to have some predictive power. The rest remain unverified and are often contradictory (I have a high and low risk for heart attack, baldness, Parkinson’s disease, and so forth).
For more about the pluses and minuses of these early days of genetic testing, check out my You 2.0 series.
Another major focus will be reporting on the nascent but growing movement to link genetics–which is only part of what makes you you and me me–with the environment, behavioral sciences, neuroscience, proteomics, epigenetics, and much more.
Producing huge piles of DNA for less money is exciting, but it’s time to move to the next step: to discover what all of this means.
For more information, go to The Experimental Man Project website.
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